Duchenne muscular dystrophy
RSS feedIncreasing efficacy of Elevidys in DMD
L’essai de phase III EMBARK avait présenté des résultats non significatifs contre placebo pour le critère principal à un an, ce qui avait valu un avis défavorable de l’Agence européenne du médicament (EMA) à la commercialisation de l’Elevidys dans la dystrophie musculaire de Duchenne (DMD). The phase III EMBARK trial showed non-significant results compared to placebo for the primary endpoint … [Read more]
BIND: a tool for better identifying and assessing central nervous system involvement in DMD
An international consortium of researchers has developed and validated a new tool for studying disorders related to central nervous system damage (learning disorders, etc.) in patients with Duchenne muscular dystrophy (DMD): BIND (Brain Involvement iN Dystrophinopathies) takes the form of an 18-item scale completed by the patient themselves and/or their carers. developed by a group … [Read more]
Limited efficacy of using AAV-U7 to deliver antisense oligonucleotides to the brains of DMD mouse models
Researchers at the University of Versailles-Saint-Quentin tested antisense oligonucleotides (ASOs) targeting exon 51 skipping of the DMD gene in mdx52 mice, models of Duchenne muscular dystrophy (DMD) with exon 52 deletion, thereby disrupting dystrophin (Dp427) expression in the brain: previous work by the same researchers had shown that these ASOs were truly effective in targeting … [Read more]
Organoids to understand the limited effectiveness of gene therapy in DMD
Researchers at the Institute of Myology* and Genethon have developed muscle organoids, called ‘MYOrganoids’, that reproduce Duchenne muscular dystrophy (DMD) in order to study gene therapy in greater detail. The ‘MYOrganoids’ were obtained from skeletal muscle cells derived from induced pluripotent stem cells from DMD patients co-cultured with fibroblasts from patients to accelerate their structural … [Read more]
Givinosat (Duvysat®) receives unfavourable opinion on reimbursement from the HAS in DMD
Givinostat (Duvyzat®) has had conditional European marketing authorisation since June 2025 for boys aged 6 years and older with Duchenne muscular dystrophy (DMD) who are ambulatory and also treated with corticosteroids. On 12 February 2026, the French National Authority for Health (HAS) issued an unfavourable opinion on its reimbursement by the national health insurance system … [Read more]
A first step towards the possibility of administering gene therapy in subjects already immune to AAV
American researchers in Indiana have studied ways to overcome the obstacle posed by the presence of neutralising antibodies in patients who need to undergo viral vector-mediated gene therapy: to this end, an optimised Duchenne muscular dystrophy (DMD) transgene was inserted into an AAV9 (AAV9-UFµDys1), and the injection was performed on mdx mice models of DMD, … [Read more]
Is methylprednisolone effective in treating cognitive impairment in DMD?
Chinese researchers studied the potentially positive effects of intraperitoneal corticosteroid injection in a mouse model of Duchenne muscular dystrophy (DMD): the working hypothesis was that methylprednisolone (MP) could improve the cognitive and behavioural disorders observed naturally in these diseased mice, the study included neuropsychological tests, brain tissue analysis and proteomic profiling, MP appears to have … [Read more]
Cardiac complications observed in rats treated with microdystrophin
French researchers, in collaboration with the Généthon laboratory, report the results of a study conducted on rats with Duchenne muscular dystrophy (DMD) treated with microdystrophin gene therapy: this work comes in the context of toxicity observed in some DMD patients who received microdystrophin using an AAV viral vector; a rat optimised to best mimic DMD … [Read more]
DMD: dystrophin deficiency also affects vascular cells
While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These results were obtained from mdx mice and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with the disease. Dystrophin is highly expressed in normal smooth muscle … [Read more]
The lysosome, a potential therapeutic target in DMD
Researchers from the Institute of Myology and Généthon report pioneering work in the treatment of Duchenne muscular dystrophy (DMD): they started from the observation that the muscle fibres of DMD patients and their murine counterparts showed lysosomal abnormalities, which are also accompanied by overexpression of Galectin-3, a key protein in lysosomal function. By using trehalose, … [Read more]
